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Related Experiment Video

Updated: May 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Published on: June 21, 2018

The association between GJB2 gene polymorphism and psoriasis: a verification study.

Que-Ping Liu¹, Li-Sha Wu, Fang-Fang Li

¹Department of Dermatology, Xiang-Ya Hospital Central South University, Changsha, Hunan, People's Republic of China.

Archives of Dermatological Research

|August 15, 2012

Summary

This study found a specific genetic variation (GJB2 rs3751385:C>T) is less common in Chinese Han individuals with psoriasis. This suggests the GJB2 gene polymorphism may influence psoriasis susceptibility.

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Area of Science:

Genetics
Dermatology
Molecular Biology

Background:

Psoriasis is a chronic inflammatory skin condition with complex causes.
Connexin 26 (Cx26) is a gap junction protein highly expressed in psoriatic skin lesions.
Genome-wide association studies (GWAS) previously linked a GJB2 gene single nucleotide polymorphism (SNP) to psoriasis in the Chinese Han population.

Purpose of the Study:

To validate the association between the GJB2 rs3751385:C>T polymorphism and psoriasis susceptibility in the Chinese Han population.
To investigate the role of Cx26 in the genetic predisposition to psoriasis.

Main Methods:

Genotyping of the GJB2 rs3751385:C>T polymorphism using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay.
Case-control study involving 371 psoriasis patients and 330 healthy controls from the Chinese Han population.

Main Results:

A statistically significant decreased frequency of the GJB2 rs3751385 C allele was observed in psoriasis patients compared to healthy controls (p = 6.02 × 10⁻⁵, OR = 0.793).
The GJB2 rs3751385:C>T polymorphism showed a protective effect against psoriasis in the studied population.

Conclusions:

The GJB2 gene polymorphism rs3751385:C>T is associated with psoriasis susceptibility in the Chinese Han population.
This finding supports the role of Cx26 in the pathogenesis of psoriasis and provides a potential genetic marker for the disease.